PDF(Pubmed)
Abstract：
Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders.
We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder.
After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point \"G\". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis.
141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded.
We report cases of PME in Mali with a possibility of discovering new genes.
We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder.
After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point \"G\". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis.
141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded.
We report cases of PME in Mali with a possibility of discovering new genes.
摘要：
进行性肌阵挛性癫痫(PME)是一组与癫痫发作和其他神经系统和非神经系统疾病相关的异质性病变。
■我们的目标是表征有PME症状的患者，并确定潜在的遗传性疾病。
■在知情同意后，在CHUPoint\"G\"的神经内科,对治疗方案中出现的遗传性神经系统疾病和出现无继发原因的癫痫征象的患者进行了为期3年的临床评估.脑电图,我们进行了脑成像和实验室检查以巩固我们的诊断.提取DNA用于遗传分析。
■共纳入了141个家庭，其中包括5个PME家庭，共8个病例。我们患者的主要症状是肌阵挛症，占87.5％（N=8），其次是GTCS和认知障碍的50%，each.在60％中发现了父母血缘关系的概念，在80％中引起了常染色体隐性遗传传播（N=5）。脑电图为病理性的62.5％，影像学表现为脑桥小脑萎缩的25％（N=8）。丙戊酸钠和氯硝西泮的联合治疗是主要的治疗方法。记录了一例死亡病例。
■我们报告了马里的PME病例，有可能发现新基因。
■我们的目标是表征有PME症状的患者，并确定潜在的遗传性疾病。
■在知情同意后，在CHUPoint\"G\"的神经内科,对治疗方案中出现的遗传性神经系统疾病和出现无继发原因的癫痫征象的患者进行了为期3年的临床评估.脑电图,我们进行了脑成像和实验室检查以巩固我们的诊断.提取DNA用于遗传分析。
■共纳入了141个家庭，其中包括5个PME家庭，共8个病例。我们患者的主要症状是肌阵挛症，占87.5％（N=8），其次是GTCS和认知障碍的50%，each.在60％中发现了父母血缘关系的概念，在80％中引起了常染色体隐性遗传传播（N=5）。脑电图为病理性的62.5％，影像学表现为脑桥小脑萎缩的25％（N=8）。丙戊酸钠和氯硝西泮的联合治疗是主要的治疗方法。记录了一例死亡病例。
■我们报告了马里的PME病例，有可能发现新基因。
